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Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

Abstract:

Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals and healthcare services is limited. We report on the feasibility of an approach to identification of SF in inherited cardiac conditions (ICC) genes in participants in a rare disease GS study, followed by targeted clinical evaluation. Qualitative methods were used to explore behavioural and psychos...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41431-020-0694-9

Authors


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Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
ORCID:
0000-0002-9116-4064
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Publisher:
Springer Nature Publisher's website
Journal:
European Journal of Human Genetics Journal website
Volume:
28
Issue:
11
Pages:
1486–1496
Publication date:
2020-07-20
Acceptance date:
2020-06-30
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Language:
English
Keywords:
Pubs id:
1115200
Local pid:
pubs:1115200
Deposit date:
2020-06-30

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